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Page 1
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Hikmat O, Naess K, Engvall M, Klingenberg C, Rasmussen M, Tallaksen CM, Brodtkorb E, Ostergaard E, de Coo IFM, Pias-Peleteiro L, Isohanni P, Uusimaa J, Darin N, Rahman S, Bindoff LA. Hikmat O, et al. J Inherit Metab Dis. 2020 Jul;43(4):726-736. doi: 10.1002/jimd.12211. Epub 2020 Jan 23. J Inherit Metab Dis. 2020. PMID: 32391929
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study.
Björkman K, Vissing J, Østergaard E, Bindoff LA, de Coo IFM, Engvall M, Hikmat O, Isohanni P, Kollberg G, Lindberg C, Majamaa K, Naess K, Uusimaa J, Tulinius M, Darin N. Björkman K, et al. Among authors: de coo ifm. J Med Genet. 2023 Jan;60(1):65-73. doi: 10.1136/jmedgenet-2021-108006. Epub 2021 Dec 6. J Med Genet. 2023. PMID: 34872991 Free PMC article.
A multicenter study on Leigh syndrome: disease course and predictors of survival.
Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N. Sofou K, et al. Among authors: de coo if, de meirleir l, de angst ib. Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52. Orphanet J Rare Dis. 2014. PMID: 24731534 Free PMC article.
Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.
Parasyri M, Brandström P, Uusimaa J, Ostergaard E, Hikmat O, Isohanni P, Naess K, de Coo IFM, Nascimento Osorio A, Nuutinen M, Lindberg C, Bindoff LA, Tulinius M, Darin N, Sofou K. Parasyri M, et al. Among authors: de coo ifm. Kidney Dis (Basel). 2022 Jan 24;8(2):148-159. doi: 10.1159/000521148. eCollection 2022 Mar. Kidney Dis (Basel). 2022. PMID: 35527992 Free PMC article.
Using urine to diagnose large-scale mtDNA deletions in adult patients.
Varhaug KN, Nido GS, de Coo I, Isohanni P, Suomalainen A, Tzoulis C, Knappskog P, Bindoff LA. Varhaug KN, et al. Ann Clin Transl Neurol. 2020 Aug;7(8):1318-1326. doi: 10.1002/acn3.51119. Epub 2020 Jul 7. Ann Clin Transl Neurol. 2020. PMID: 32634300 Free PMC article.
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.
Jacobs LJ, Jongbloed RJ, Wijburg FA, de Klerk JB, Geraedts JP, Nijland JG, Scholte HR, de Coo IF, Smeets HJ. Jacobs LJ, et al. Among authors: de coo if, de klerk jb. J Inherit Metab Dis. 2004;27(1):47-55. doi: 10.1023/B:BOLI.0000016601.49372.18. J Inherit Metab Dis. 2004. PMID: 14970745
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD, Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B; Thiamine Deficiency Study Group. Ortigoza-Escobar JD, et al. Among authors: de coo if. Ann Neurol. 2017 Sep;82(3):317-330. doi: 10.1002/ana.24998. Epub 2017 Aug 30. Ann Neurol. 2017. PMID: 28856750
Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.
Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF. Hubens WHG, et al. Among authors: de coo ifm. Mitochondrion. 2022 Jan;62:187-204. doi: 10.1016/j.mito.2021.10.008. Epub 2021 Nov 2. Mitochondrion. 2022. PMID: 34740866 Free article. Review.
145 results